Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(301): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01928.hp1 others(3): Show HG00735.hp2 HG01099.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0267	6	162	0.0370	308	c.24- others(323): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGTA TTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(301): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(91): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(86): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0003t0001g0149 a0001c0003t0001g0158	94	250	0.3760	308	c.24- others(323): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGTA TTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(301): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTATTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0148 a0001c0001t0001g0151	2	158	0.0127	308	c.24- others(323): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA ATAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGTA TTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RALYL_chr8_84178274_84926844	84525026	A A	ACGGCCTC others(301): Show ACGGCCTCAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 NA18522.hp1 HG02572.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0043 a0001c0001t0002g0047 a0001c0001t0005g0020 a0001c0001t0001g0043 a0001c0001t0002g0047 a0001c0001t0005g0020	3	81	0.0370	308	c.-23 others(325): Show c.-23-4260_-23-4259insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCAATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84525029	G G	GCCTCAAT others(301): Show GCCTCAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02602.hp2 HG02683.hp1 others(8): Show HG01167.hp2 HG02602.hp2 HG02683.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG04115.hp2 NA18906.hp1 NA18999.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0054 others(8): Show a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0002g0052 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0011g0015 a0001c0001t0012g0017	11	80	0.1375	308	c.-23 others(325): Show c.-23-4260_-23-4259insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGACCTCAATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RASA3_chr13_113972783_114137623	114044122	G G	GCCCCCCC others(301): Show GCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGC TGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCT CACTCGCTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTC ACTCGCTGAGCCCCCCCGCCTCACTCGCTGAGCTCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCAC TCGCTGAGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0064 a0001c0007t0002g0064	1	45	0.0222	308	c.278 others(325): Show c.278-3029_278-3028insGCTCAGCGAGTGAGGCGGGGCGGGGGGG CTCAGCGAGTGAGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGAGC TCAGCGAGTGAGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTC AGCGAGTGAGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTC AGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGG CTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044175	G G	GCCCCCCC others(301): Show GCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCAC TCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCC GCCTCACTCGCTGAGCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTG AGCCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCCCGCCTCACTC GCTGAGCCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	51	0.0196	308	c.278 others(325): Show c.278-3082_278-3081insGGGCTCAGCGAGTGAGGCGGGGGGGGGG GGCTCAGCGAGTGAGGCGGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGT GAGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCG AGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGAGC TCAGCGAGTGAGGCGGGGCGGGGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCCTCCCAAAATGCTGGGATTACAG ACGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAG ACGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0024 a0002c0003t0002g0024	1	52	0.0192	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAG CCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGCT TCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAGGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCCAAAAATGCTGGGATTACAG ACGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAG ACGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCTGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	52	0.0192	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCAGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAG CCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGCT TCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTTGGGAGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCCAAAATGCTGGGATTACAGA CGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAGA CGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0186 a0001c0001t0016g0186	1	52	0.0192	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTTGCGCTCCA GCCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGC TTCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCCAAAATGCTGGGATTACAGA CGTGAGCCACCGTGCCACACCAGAAGCCGTTTGTTGTTGTTGTTTTTGAG ACGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	52	0.0192	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAG CCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAAACGGC TTCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(301): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTG TACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	324	0.0031	308	c.-23 others(319): Show c.-2310_-2309insGTATGTGTACACATACATATGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATATGTATGTATACACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGCATAC ACATACATATGTATGCATACACATACATATGTATGCATACACATACATAT GTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(301): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATATGTATGTATGTGTACACATACGTATG TATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	377	0.0027	308	c.-23 others(319): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RIMS1_chr6_71881550_72408145	72043662	T T	TGCTAATG others(301): Show TGCTAATGTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCA GTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0052 a0001c0003t0004g0052	1	131	0.0076	308	c.246 others(327): Show c.246-53273_246-53272insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTG CGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGGCTAATGTACTATT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIN3_chr14_92508781_92693994	92640736	G G	GTTTGCTG others(301): Show GTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACT GTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGA CTGTGTGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCT GACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGC CTGACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGC CTGACTGCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18945.hp1 NA18964.hp1 others(2): Show HG02129.hp1 NA18945.hp1 NA18964.hp1 NA19012.hp2 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0084 a0003c0003t0001g0219 others(2): Show a0003c0003t0001g0067 a0003c0003t0001g0084 a0003c0003t0001g0219 a0003c0003t0001g0221 a0003c0003t0001g0313	5	238	0.0210	308	c.441 others(323): Show c.441-454_441-453insTGCGTTTGCTGGGAGATGCCTGACTGTGTG TTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTG TGTTCATCGGGGGCTGCCTGACTGTGTGTTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGAC TGTGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGAC TGTGTGTTCGTCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGAC TGTGTGTTCATCGGGGGCTGCCTGACTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20508708	T T	TAAGAAAG others(301): Show TAAGAAAGAATCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0158 a0002c0002t0046g0158	1	394	0.0025	308	c.-5- others(323): Show c.-5-1744_-5-1743insTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCC ACCGCGCCCGGCCAAGAAAGAATCTTTT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF17_chr13_24759169_24884921	24881896	C C	CTATATAG others(301): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	415	0.0024	308	c.21 others(319): Show c.2170_*2171insTATATAGATATATAATCTATATAGATATATAATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1976		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA20905.hp2 NA18984.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0083 a0001c0002t0001g0070 a0001c0002t0001g0083	2	195	0.0103	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	194	0.0052	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA TATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	194	0.0052	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA TATAGATATATAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	194	0.0052	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA TATAGATATATAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF180_chr5_64160843_64377869	64362908	T T	TCCTTTGC others(301): Show TCCTTTGCCCACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCTGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	220	0.0045	308	c.158 others(327): Show c.1580-6691_1580-6690insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCTGGCCCTTTGCCCACTTTTT	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROBO2_chr3_77035099_77654964	77291229	A A	AAGTAAAA others(301): Show AAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAGATCACTAAACAC ATAAAGTAAAATTGACAGTTAAACGGGTAAGCTGAGGCTAGATCACCCAG ACATAAAGTAAAATTGAAGATTAAACGGGAAGTTGAGGCTAGAACAGTAA AGGCATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGATCAC CCCAGACATAAAGTAAAATTGATGGATAAACGGATAAGCTGAGGCTAGAT CACCCCAGACGTGAAGTAAAATTGACGGCTAAAAGTGTAAGCTGAGACTA GATCACCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0011 a0001c0001t0037g0011	1	160	0.0063	308	c.389 others(329): Show c.389-186183_389-186182insTAAAATTGATGGTTAAATGGGTAA GCTGAGGCTAGATCACTAAACACATAAAGTAAAATTGACAGTTAAACGGG TAAGCTGAGGCTAGATCACCCAGACATAAAGTAAAATTGAAGATTAAACG GGAAGTTGAGGCTAGAACAGTAAAGGCATAAAGTAAAATTGATGGTTAAA CGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGAT AAACGGATAAGCTGAGGCTAGATCACCCCAGACGTGAAGTAAAATTGACG GCTAAAAGTGTAAGCTGAGACTAGATCACCCCAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7679474	T T	TTATATAT others(301): Show TTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	40	0.0250	308	c.-75 others(327): Show c.-758+6355_-758+6356insTAAATATATATTTATCTATAAACTAA ATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTA TCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAACATGTATCTATAAACTAAATATATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	242609	C C	CCTTCCTC others(301): Show CCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGAT TACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATT GACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCT ATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGACTA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0044 a0001c0008t0001g0044	1	126	0.0079	308	c.613 others(325): Show c.613+4501_613+4502insTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGGTAATCAATAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272984	C C	CGACATCA others(301): Show CGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGA CCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGACATCAGG AAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGAC ATCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAG GGCGACATCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCC AGCGAGGGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	112	0.0089	308	c.438 others(325): Show c.438+8783_438+8784insACCCTCGCTGGGGTCTCTCCCTGACGTC ACCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCACCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCT CTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTG GGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGACGTCACCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCGCCCTCGCTGGGGTCTCTTCCTGATGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273015	C C	CGTCAGGG others(301): Show CGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAG AGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTC AGGGAGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGC GACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGC AAGGGTGAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19005.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0026 a0001c0001t0002 a0001c0004t0026	a0001c0001t0002g0029 a0001c0004t0026g0013 a0001c0001t0002g0029 a0001c0004t0026g0013	2	131	0.0153	308	c.438 others(325): Show c.438+8752_438+8753insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCAC CCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGG TCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCG CTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTG ACGTCGCCCTCGCTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273287	G G	GAGGGCGA others(301): Show GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGG AGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGATG TCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCA GCAAGGGTGACGTCGGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	127	0.0079	308	c.438 others(325): Show c.438+8480_438+8481insTGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCCGACGTCACCCTTGCTGGGGTCTCACCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCC TGACATCACCCTTGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTC TCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCT GGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCC CTCGCTGGGGTCTCTCCCTGACGTCGCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273519	C C	CGTCAGGA others(301): Show CGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGCGACGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGCAACATC AGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGT GACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGC AAGGGTGAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	88	0.0114	308	c.438 others(325): Show c.438+8248_438+8249insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTC CCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTTGCCCTCGCTGGGG TCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCG CTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTG ACGTCGCCCTCGCTGGGGTCTCTTCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273611	A A	AGAGACCC others(301): Show AGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGG GTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCA GCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGA CTTCAGGGT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	124	0.0081	308	c.438 others(325): Show c.438+8156_438+8157insACCCTGAAGTCACCCTTGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGT CACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCTCCCTGACATCACCCTTGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TTGAGAAA others(301): Show TTGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0348 a0001c0001t0025g0348	1	9	0.1111	308	c.-30 others(327): Show c.-303+5471_-303+5472insTGAGAAAGAGTCTCAGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATTGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3			chr19	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TTGAGAAA others(301): Show TTGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18989.hp1 HG02258.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0327 a0001c0001t0006g0321 a0001c0001t0001g0327 a0001c0001t0006g0321	2	10	0.2000	308	c.-30 others(327): Show c.-303+5471_-303+5472insTGAGAAAGAGTCTCAGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATTGAGACCATCCCGGCTAAAACGGTGAAACCCTGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3			chr19	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(301): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATATGTATATAAACACACATACGTGTA TATGTTTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19088.hp1 NA18950.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0236 a0001c0001t0002g0238	2	159	0.0126	308	c.494 others(327): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATATGTATA TAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(301): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02559.hp2 HG00323.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0255 a0001c0001t0002g0234 a0001c0001t0002g0255	2	159	0.0126	308	c.494 others(327): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTTTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(301): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0030 a0001c0001t0007g0276 a0001c0001t0006g0030 a0001c0001t0007g0276	2	159	0.0126	308	c.494 others(327): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645944	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACACATATATGTATATACACATATATGTATATAT ACATATATATACATATATGTGTATATATACATATATACACATATATGTAT ATACACATATATGTATATATACATATACGTATATATACATATATGTATAT ATACATATACGTATATATACATATATGTATATATACATATATGTATATAT ACATATATGTATATATACACATATGTATATATACATATGTGTATATATAC ATATATATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0093 a0001c0002t0005g0103 a0001c0002t0005g0093 a0001c0002t0005g0103	2	188	0.0106	308	c.731 others(327): Show c.731+49078_731+49079insCATATATATGTATATATACACATATG TATATATACATATGTGTATATATACATATATGTATATATACATATATGTA TATATACATATATGTATATATACGTATATGTATATATACATATATGTATA TATACGTATATGTATATATACATATATGTGTATATACATATATGTGTATA TATGTATATATACACATATATGTATATATATGTATATATACATATATGTG TATATACATATATGTGTATATATGTATATATACACATATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACATATACGTATATATACACATATGTATATAT ACATATACGTATATATACATATATGTATATATACATATACGTATATATAC ATATATGTATATATACGTATATGTATATATACATATGTGTATATATACAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0148 a0001c0001t0007g0148	1	161	0.0062	308	c.731 others(327): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATACGTATATATACATATATGTATATATACGTATATG TATATATACATATATGTATATATACGTATATGTATATATACATATGTGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACATATACGTATATATACATATATGTATATAT ACATATACGTATATATACATATATGTATATATACATATACGTATATATAC ATATATGTATATATACATATATGTATATATACATATGTGTATATATACAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	161	0.0062	308	c.731 others(327): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATATGTATATATACATATATGTATATATACGTATATG TATATATACATATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACATATACGTATATATACATATATGTATATAT ACATATACGTATATATACATATATGTATATATACATATATGTATATATAC ATATATGTATATATACACATATGTATATATACATATGTGTATATATACAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG01981.hp2 HG00639.hp2 HG01175.hp1 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0096 a0001c0003t0001g0080 a0001c0003t0001g0098 a0001c0002t0001g0096 a0001c0003t0001g0080 a0001c0003t0001g0098	3	163	0.0184	308	c.731 others(327): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATATGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(301): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18906.hp2 NA18977.hp2 HG02735.hp2 NA18906.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0104 a0001c0001t0001g0124 a0002c0002t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0124 a0002c0002t0001g0101	3	150	0.0200	308	c.899 others(323): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYR2_chr1_237037184_237838988	237804311	A A	ACCTCAGT others(301): Show ACCTCAGTGTGCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	78	0.0128	308	c.141 others(329): Show c.14152-1810_14152-1809insTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAATAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTCAGTGTGCTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	98/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237804311	A A	ACCTCAGT others(301): Show ACCTCAGTGTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp2 HG02922.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0037 a0002c0025 a0001c0037 a0002c0025	a0001c0037t0012 a0002c0025t0037 a0001c0037t0012 a0002c0025t0037	a0001c0037t0012g0037 a0002c0025t0037g0003 a0001c0037t0012g0037 a0002c0025t0037g0003	2	79	0.0253	308	c.141 others(329): Show c.14152-1816_14152-1815insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAATAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTCAGTGTG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	98/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934736	G G	GGGGGAGG others(301): Show GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTAC AGGTGGGCA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	422	0.0024	308	c.843 others(325): Show c.843-1024_843-1023insCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCAGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65971088	A A	AGCTGAGG others(301): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0087 a0002c0001t0001g0087	1	253	0.0040	308	c.157 others(327): Show c.1572+3300_1572+3301insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGGT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(301): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTG GAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATA GCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAG TCCATAGCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01256.hp1 HG01099.hp1 HG01192.hp2 HG01256.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0004 a0002c0002t0004 a0004c0006t0004 a0001c0001t0004 a0002c0002t0004 a0004c0006t0004	a0001c0001t0004g0216 a0002c0002t0004g0215 a0004c0006t0004g0213 a0001c0001t0004g0216 a0002c0002t0004g0215 a0004c0006t0004g0213	3	63	0.0476	308	c.55+ others(325): Show c.55+44322_55+44323insTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGAC TCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCT ATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCC AATGCTATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(301): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAA AACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTAG ACAGGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATG GCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGC CTCCAAGGT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	179	0.0056	308	c.678 others(323): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCCTGTCTAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCT AGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCT GGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(301): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAA AACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTA GACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATG GCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGC CTCCAAGGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04199.hp2 NA18972.hp2 others(5): Show HG04184.hp1 HG04199.hp2 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18991.hp2 NA19030.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0008 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0004c0004t0001 a0004c0004t0016	a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0245 others(5): Show a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0266 a0001c0001t0008g0211 a0004c0004t0001g0321 a0004c0004t0016g0287	8	186	0.0430	308	c.678 others(323): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCT AGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCT GGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(301): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTA GACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATG GCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGC CTCCAAGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01175.hp1 HG02027.hp1 others(13): Show HG00597.hp1 HG01175.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG03516.hp1 HG03688.hp1 NA18950.hp2 NA18956.hp2 NA18968.hp2 NA18975.hp1 NA18979.hp1 NA19000.hp1 NA19000.hp2 NA19067.hp1 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0006 a0001c0001 a0004c0004 a0004c0006	a0001c0001t0001 a0001c0001t0017 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0017 a0004c0004t0001 a0004c0006t0012	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0120 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0120 a0001c0001t0001g0176 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0017g0215 a0004c0004t0001g0293 a0004c0004t0001g0302 a0004c0006t0012g0092	16	194	0.0825	308	c.678 others(323): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAA TAAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCT AGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCT GGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCIMP_chr17_5203920_5239860	5232350	A A	ATAAACAG others(301): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCA GTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAAC AGTGCAGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	382	0.0026	308	c.21+ others(323): Show c.21+2384_21+2385insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTACACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TATACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACTGC ACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTA CACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(301): Show GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAGGGGGGT GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	164	0.0061	308	c.464 others(321): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGG GGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGA GGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results